Module Catalogue 2024/25

Pre Requisite Comment

Stage 2 Biomedical Genetics (B901)

Co Requisite Comment

N/A

Aims

The aims of this module are to:

1.       Introduce the fundamental principles of the genetic diagnosis of a range of human diseases and how this relates to clinical practice.

2.       Describe the human karyotype and how chromosomes behave during cell division.

3.       Demonstrate how chromosome abnormalities and genetic variation occur and how this relates to the onset and inheritance of human disease.

4.       Familiarise the student with the methods and techniques used to identify, characterise/classify a range of genetic mutations in the context of human disease.

5.       Provide an opportunity for students to interpret genetic mutations and their impact on human health.

Outline Of Syllabus

This module will introduce and describe the fundamental processes used to diagnose human disease. The lectures and seminars in this module will cover the underlying genetic causes, inheritance, and impact of genetic variation on a range of human diseases, whilst exploring the techniques used to identify and classify this genetic variation.

Specifically, the lectures and seminars will cover the flowing topics:
•       The principles of clinical genetic diagnostics and its implementation.

•       Structural chromosomal abnormalities and their impact on human disease (e.g. Cancer, Duchenne muscular dystrophy and Fragile X).

•       Fundamental and evolving methodologies/techniques that are utilised to diagnose, assess, and characterise human genetic disease.

•       Clinical interpretation of genetic data and how this impacts human disease, genetic counselling and the ethical concerns related to this type of data.

•       The complex relationship between genetic variation and disease phenotypes.

•       The role that mitochondria and mitochondrial DNA play in human disease.

Intended Knowledge Outcomes

At the end of the module students should be able to:

Demonstrate an awareness of how the various clinical and laboratory components of the clinical genetics service provide a coordinated service to patients.

1. Describe the inheritance patterns seen in families with heritable disease.

2. Describe the structure of human genome, the nature of genomic variation and the normal human karyotype.

3. Demonstrate an understanding of the molecular mechanisms that are responsible for human genetic disease and laboratory techniques used for diagnosis.

4. Demonstrate an understanding of the processes required to produce and stain chromosome preparations
from a variety of tissues.

5. Demonstrate an awareness of how numerical and structural chromosome abnormalities occur and the clinical syndromes which can result from these abnormalities.

6. Demonstrate an understanding of how structurally rearranged chromosomes behave during meiotic cell
division and how this behaviour can result in the production of gametes with unbalanced chromosome
constitutions.

7. Demonstrate an awareness of the significance of both inherited genetic abnormalities and acquired
chromosome abnormalities in cancer.

8. Demonstrate an awareness of challenges involved in prenatal diagnosis of chromosomal syndromes.

9. Show awareness of common non-Mendelian disease.

10. Understand the impact of pharmacogenetics.

11. Demonstrate awareness of strategies for the treatment of genetic disease.

Intended Skill Outcomes

At the end of the module students should be able to:

1. Perform rudimentary chromosome analysis.

2. Draw pedigrees.

3. Interpret pedigree information.

4. Interpret basic abnormal cytogenetic results.

5. Interpret basic abnormal molecular genetic results.

Teaching Rationale And Relationship

The lectures will be used to introduce the material on the course and deliver the bulk of the knowledge required, so that students can meet the learning outcomes.

The practicals will be used to reinforce the material, methodologies and ideas covered on the course and to offer students experience of realistic case-handling scenarios.

The seminar/workshop will reinforce the material covered in the course, particular the technologies and methods used in the genetic diagnostics.

Assessment Rationale And Relationship

The exam essay tests the student's knowledge, comprehension and ability to discuss the subject knowledge critically.

The practical quiz is a computer exercise that will test students on their understanding and ability to use their knowledge to critically evaluate and interpret data as discussed during the practical sessions.

General Notes

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